MR1

major histocompatibility complex, class I-related
OMIM: 600764, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red MR1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • Paroxysmal/Episodic dystonia
Red MR1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Warts, bacterial infections, MAIT cells deficiency
Red MR1 in Adult onset neurodegenerative disorder


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Dystonia
  • Paroxysmal/Episodic dystonia
Red MR1 in Adult onset dystonia, chorea or related movement disorder


Version 3.19
Latest signed off version: v3.12 (31 Jul 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Paroxysmal/Episodic dystonia
  • Dystonia
Red MR1 in Childhood onset dystonia, chorea or related movement disorder


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PanelApp
  • South West GLH
Phenotypes
  • Dystonia
  • Paroxysmal/Episodic dystonia